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MCID: PHC018
MIFTS: 39
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Phace Association
Categories:
Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Phace Association:
Characteristics:Inheritance:
Phace Association:
Isolated cases 57
Phace Syndrome:
X-linked dominant 58
Prevelance:
Phace Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Phace Syndrome:
Antenatal,Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities 87% patients are female Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Cardiovascular diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis |
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Orphanet: 58 PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. MalaCards based summary: Phace Association, also known as phace syndrome, is related to hemangiomas, cavernous, of face and supraumbilical midline raphe and cerebral cortical dysplasia, and has symptoms including seizures An important gene associated with Phace Association is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include eye, brain and heart, and related phenotypes are abnormal cerebral artery morphology and glaucoma GARD: 19 PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have posterior fossa brain malformations, hemangioma, arterial lesions (blood vessel abnormalities in the head or neck), cardiac (heart) abnormalities/aortic coarctation, and eye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown. OMIM®: 57 PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011). (606519) (Updated 08-Dec-2022) Wikipedia: 75 PHACE syndrome is a cutaneous condition characterized by multiple congenital abnormalities. The mnemonic... more... |
Human phenotypes related to Phace Association:58 30 (show top 50) (show all 52)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:606519 (Updated 08-Dec-2022)UMLS symptoms related to Phace Association:seizures |
Interventional clinical trials:
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Organs/tissues related to Phace Association:
MalaCards :
Eye,
Brain,
Heart,
Thyroid,
Skin,
Pituitary
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Articles related to Phace Association:(show top 50) (show all 344)
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Genes related to Phace Association (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Phace Association:5
Copy number variations for Phace Association from CNVD:6
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Search
GEO
for disease gene expression data for Phace Association.
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